An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency

by N. Vatanavicharn, N. Visitsunthorn, T. Pho-Iam, O. Jirapongsananuruk, P. Pacharn, K. Chokephaibulkit, C. Limwongse, P. Wasant
Published 2018